ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655

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